The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria

Abstract

Background. The organization of care has a deep impact on the variability in the quality of care provided to patients and on the equity of care access. The lack of coordination of care, the lack of communication among health care providers, healthcare professionals and patients, the duplication of many services that are provided to the patients, represent some paradigmatic examples of organizational barriers and crucial issues to manage in the achievement of delivering high quality patient-centered care and the promotion of equitable access to healthcare services everywhere in Europe independently from the place where the patients live. This work represents the first application of the RarERN Path©methodology for the re(design) of Patient Care Pathways (PCP) outside the rare and complex connective tissue and musculoskeletal diseases (rCTDs) covered by ERN ReCONNET where the methodology was developed, through a productive collaboration between the group of Health Economics of the Institute of Management of Scuola Superiore Sant’Anna and the Value of Treatment (VOT) for Rare Brain Disorders (Ataxia, Dystonia and Phenylketonuria) research project undertaken in 2019-2022 by the European Brain Council (EBC). Results. Ataxia, Dystonia and Phenylketonuria (PKU) all share similar challenges: delayed diagnosis, barriers to access specialized care and treatment options, psychological burden, transition from pediatric care to adult care. The application of some of the phases of RarERN Path methodology enabled the translation of the good practices already in place in the centres of expertise into a common optimized PCP, one for each or the three rare neurological diseases, integrating the expertise of some reference centers of excellence members of ERN RND and MetabERN with the patients’ perspectives, and principally focusing on the organization of care for Ataxia, Dystonia and PKU. Conclusions. The PCPs proposed for Ataxia, Dystonia and PKU are the results of a co-designed optimized process integrating a) the good practices of the centers of excellence and expertise in Ataxia, Dystonia and PKU, also belonging to two of the 24 European Reference Networks for rare diseases (ERN RND and MetabERN), with b) the perspectives of the patients’ representatives. This integrated approach allowed to re-design and to optimize the organizational dimensions of the patients care pathways.